CBMi Press Releases

Philadelphia, March 21, 2014 - Long before next-generation sequencing technology ushered in today’s data-intensive era of human genome information, clinicians have been taking family histories by jotting down pedigrees: hand-drawn diagrams recording how diseases may recur across generations, and offering clues to inheritance patterns.

Philadelphia, October 16, 2013 - Biomedical researchers often confront large quantities of information that may be amassed in many forms: vital signs, blood cell counts, lengthy DNA sequences, bar graphs, MRIs, patient demographics, and so much more. How do researchers assemble, access and analyze all that data without having to become specialized database technicians themselves?

A team of informatics experts and biomedical researchers at The Children’s Hospital of Philadelphia (CHOP) offers a new software toolkit to help researchers wrangle data. Their open-source, highly interactive framework called Harvest (http://harvest.research.chop.edu) is designed to let users to navigate quickly among different types and levels of data.

Philadelphia, Dec. 6, 2011 - The Children’s Hospital of Philadelphia is one of five U.S. centers, and the only one focusing on pediatrics, to receive a new four-year Clinical Sequencing Exploratory Research Project award. Children’s Hospital will receive $2.2 million per year for four years. The National Human Genome Research Institute (NHGRI) announced the grant today as part of an intensified focus on the medical applications of its flagship Genome Sequencing Program.

As part of the grant, CBMi's project "Sequencing, Analysis and Interpretation of Sequencing Data" aims to build a framework for systematically assessing the gene sequence data we collect, to integrate the data with medical care.

Grant Will Help Bridge Digital Divide for People with Disabilities

The Children’s Hospital of Philadelphia Center for Biomedical Informatics and the Inglis Foundation, also based in Philadelphia, are partnering with Boston public broadcaster WGBH’s Carl and Ruth Shapiro Family National Center for Accessible Media (NCAM) on a joint project to explore how adaptive technology can make personal health records accessible to people with disabilities. NCAM is the project leader and principal recipient of the three-year, $600,000 grant, awarded by the U.S. Department of Education.

New research on the genomics of autism confirms that the genetic roots of the disorder are highly complicated, but that common biological themes underlie this complexity. In the current study, researchers have implicated several new candidate genes and genomic variants as contributors to autism, and conclude that many more remain to be discovered.